Mutation Details for c.4296_4297insGA

cDNA Name c.4296_4297insGA 
Protein Name p.Ser1435GlyfsX14 
Exon or Intron exon 27 
Legacy Exon or Intron exon 24 
Legacy Name 4428insGA 
Other Details The mutation was detected by DGGE and direct sequencing in a CAVD patient carrying [delta]F508. 
Contributors Dubourg C, Jezequel P, David V   1997-10-17
Institute Laboratoire de Génétique Moléculaire CHU Pontchaillou Rennes, France 
Submitted Phenotype Details The mutation was identified in a 25 years old male, also carrying deltaF508 on the other cromosome. He is PS, has moderate respiratory symptoms and sweat chloride 80 mmol/l. He also has chronic sinusitis and obstructive azoospermia.(pers. corr. Dubourg) 
Reference Dubourg et al. (NL#70) 

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The Database was last updated at Apr 25, 2011